#ScienceSaturday: December 7, 2019

#ScienceSaturday posts share relevant and exciting scientific news with the KAND community, and are compiled by Alejandro Doval. Alejandro is from Spain and serves as Team Leader of the KIF1A.ORG parent-led Research Engagement Team. Send news suggestions to our team at impact@kif1a.org.

Recent KIF1A-Related Research

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

Led by a team of researchers in The Netherlands, this paper
reports on four KIF1A patients and their symptoms. The team concludes “mobility
and cognition are severely affected in children with spastic paraplegia due to
de novo KIF1A mutations. Deterioration in mobility is most likely due to
progressive spasticity, muscle weakness, and the secondary development of
severe contractures, possibly combined with an additional progressive
polyneuropathy. Close follow-up and treatment of these patients are warranted.”

Long-term follow-up until early adulthood in autosomal dominant,
complex SPG30 with a novel KIF1A variant: a case report

This case report from Italy covers the natural history of one KIF1A patient, from 18 months to 19 years old. The patient is affected by common KAND symptoms, including speech delay, intellectual disability, frequent falling and cerebellar atrophy.

Some good news in this case report: the researchers note while
“Cerebellar atrophy is an almost constant finding in complicated forms of SPG30”
they found in their long-term study of this patient, “there is no progression
in cerebellar atrophy in the long-term follow-up from infancy to early
adulthood.” In other words, the patient had cerebellar atrophy, but it did not
get worse over time.

The model
of local axon homeostasis – explaining the role and regulation of microtubule
bundles in axon maintenance and pathology

If you want to spend your entire day reading about axons and microtubules (MTs), we’ve got a paper for you. MTs are especially important for motor proteins (like KIF1A). In a past Research Simplified summary, KIF1A researcher Dominique Lessard explains MTs are the “cellular roadways that kinesin/KIF motors follow to get to a specific destination.”

In this new paper from the UK, researchers “observe that loss of certain transport kinesins (Kinesin heavy chain/Khc/Kif5A or B, Unc-104/Kif1A) causes severe MT disorganisation in Drosophila primary neurons.”

Rare Disease News

Artificial
Neurons on a Chip Developed to Treat Chronic Diseases

“An international team of scientists has developed artificial neurons on silicon chips that behave just like neurons in the body. The first-of-its-kind achievement could lead to the development of medical devices for treating chronic diseases, such as heart failure, Alzheimer’s disease, or other neurodegenerative disorders.” Watch this video or read the article to learn more about this fascinating discovery.

Working
with a mouse model of Duchenne muscular dystrophy (which causes dystrophin deficiency),
researchers observed restoration of dystrophin in skeletal and cardiac muscles
after a one-time treatment of an AAV CRISPR therapy. After experimenting with
different vector doses, the team also concluded that a higher gRNA vector dose
was needed to achieve optimal results. The researchers suggest these insights and
method for using AAV CRISPR could be applied to “any disease that requires
systemic life-long mutation correction.”

Q3 2019 Data Report – Quarterly Regenerative Medicine Sector
Report

If you
want a look at the global landscape of regenerative medicine, including gene
and cell therapy, check out this report from the Alliance for Regenerative
Medicine. There are currently over 1,000 clinical trials underway using regenerative
and advanced therapies for cancers, musculoskeletal and central nervous system
disorders, and other diseases.